IthaID: 245
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 123 (-A) >156aa | HGVS Name: | HBB:c.370delA |
| Hb Name: | Hb Makabe | Protein Info: | β 123 (-A); modified C-terminal sequence: (123)Pro-His-Gln-Cys-Arg-Leu-Pro-Ile-Arg-Lys- Trp-Trp-Leu-Val-Trp-Leu-Met-Pro-Trp-Pro- Thr-Ser-Ile-Thr-Lys-Leu-Ala-Phe-Leu-Leu- Ser-Asn-Phe-(156)Tyr-COOH |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GGCCCATCACTTTGGCAAAGAATTC [A/-] CCCCACCAGTGCAGGCTGCCTATCA (Strand: -)
Comments: Includion body β-thalassemia in the heterozygote. Unstable Hb variant.
Phenotype
| Hemoglobinopathy Group: | Thalassaemia and Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-thalassaemia, β-chain variant |
| Allele Phenotype: | Thalassaemia dominant Dominant |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: |
Haemolytic anaemia [HP:0001878] Ineffective erythropoiesis [HP:0010972] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71944 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Deletion) |
|---|---|
| Effect on Gene/Protein Function: | Frameshift (Translation) |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Dominant |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
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Frequencies
Publications / Origin
- Fucharoen S, Fucharoen G, Fukumaki Y, Nakayama Y, Hattori Y, Yamamoto K, Ohba Y, Three-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta gunma) with a thalassemia-like phenotype., Blood, 76(9), 1894-6, 1990 PubMed
- Fucharoen S, Kobayashi Y, Fucharoen G, Ohba Y, Miyazono K, Fukumaki Y, Takaku F, A single nucleotide deletion in codon 123 of the beta-globin gene causes an inclusion body beta-thalassaemia trait: a novel elongated globin chain beta Makabe., British journal of haematology, 75(3), 393-9, 1990 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2023-08-09 10:36:57 (Show full history)
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